|Institutional Source||Beutler Lab|
|Gene Name||predicted gene 8251|
|Is this an essential gene?||Probably non essential (E-score: 0.123)|
|Stock #||D3080 of strain grasshopper|
|Chromosomal Location||44055952-44061936 bp(-) (GRCm38)|
|Type of Mutation|
|DNA Base Change (assembly)||C to A at 44067335 bp|
|Amino Acid Change|
|Coding Region Coverage||
|Validation Efficiency||82% (141/173)|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gm8251||
|Nature of Mutation|
DNA sequencing using the SOLiD technique identified a G to T transversion at position 8174 of the Gm8251 transcript. The mutation causes a cysteine to phenylalanine change at amino acid 2725 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|Protein Function and Prediction|
The Gm8251 gene encodes a predicted 3475 amino acid protein. Analysis using the SMART program did not reveal any conserved domains or structures, although there is an internal repeat at amino acids 2781-2962 and 3208-3401.
The C2725F change is predicted to be benign by the PolyPhen program.